A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983357



Internal ID12629476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43618190..43749124hg38UCSC Ensembl
Innerchr2:43845329..43976263hg19UCSC Ensembl
Innerchr2:43698833..43829767hg18UCSC Ensembl
Innerchr2:43756980..43887914hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38130935
hg19130935
hg18130935
hg17130935
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751892
Supporting Variants
SamplesBEC_642
Known GenesLOC728819, PLEKHH2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983357
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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